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    DEDD death effector domain containing [ Homo sapiens (human) ]

    Gene ID: 9191, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DEDDprovided by HGNC
    Official Full Name
    death effector domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:2755
    See related
    Ensembl:ENSG00000158796 MIM:606841; AllianceGenome:HGNC:2755
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEFT; KE05; DEDD1; FLDED1; DEDPro1; FLDED-1; CASP8IP1
    Summary
    This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 12.8), placenta (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DEDD in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161120974..161132667, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160258449..160270142, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161090764..161102457, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9 Neighboring gene prefoldin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161087283-161088263 Neighboring gene nitrilase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161093620-161094120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161101327-161102150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1977 Neighboring gene linc-UFC1 Neighboring gene small nucleolar RNA ACA64

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nuclear localization of DEDD leads to caspase-6 activation through its death effector domain and inhibition of RNA polymerase I dependent transcription. Schickling O, et al. Cell Death Differ, 2001 Dec. PMID 11753564
    2. DEFT, a novel death effector domain-containing molecule predominantly expressed in testicular germ cells. Leo CP, et al. Endocrinology, 1998 Dec. PMID 9832420
    3. MCL1 and DEDD Promote Urothelial Carcinoma Progression. Hong AL, et al. Mol Cancer Res, 2019 Jun. PMID 30777879, Free PMC Article
    4. MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer. Wu DM, et al. Int J Biochem Cell Biol, 2018 Sep. PMID 29953965
    5. DEDD interacts with PI3KC3 to activate autophagy and attenuate epithelial-mesenchymal transition in human breast cancer. Lv Q, et al. Cancer Res, 2012 Jul 1. PMID 22719072

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identify MCL1 and DEDD as genes that contribute to aggressive urothelial carcinomas.
      Title: MCL1 and DEDD Promote Urothelial Carcinoma Progression.
    2. MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer
      Title: MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer.
    3. DEDD protein role in cell proliferation and migration of bladder cancer
      Title: miR-24-3p regulates bladder cancer cell proliferation, migration, invasion and autophagy by targeting DEDD.
    4. Via direct interaction with the class III PI-3-kinase (PI3KC3)/Beclin1, DEDD activated autophagy and induced the degradation of Snail and Twist, two master regulators of EMT
      Title: DEDD interacts with PI3KC3 to activate autophagy and attenuate epithelial-mesenchymal transition in human breast cancer.
    5. FAS-associated death domain (FADD)-DED-induced reactive oxygen species (ROS) generation is triggered by membrane localization of FADD-DED, which shifts the cells into a state that stimulates and fuels ROS and ultimately results in cell death.
      Title: Localization of the death effector domain of Fas-associated death domain protein into the membrane of Escherichia coli induces reactive oxygen species-involved cell death.
    6. DEDD forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC
      Title: Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.
    7. DEDD and DEDD2 may be important mediators for death receptors and that they may target caspases to the nucleus.
      Title: DEDD and DEDD2 associate with caspase-8/10 and signal cell death.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    death effector domain-containing protein
    Names
    death effector domain-containing testicular molecule

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039711.2 → NP_001034800.1  death effector domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_001034800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL591806, BC013910
      Consensus CDS
      CCDS1219.1
      UniProtKB/Swiss-Prot
      D3DVF5, O60737, O75618
      UniProtKB/TrEMBL
      B3KMS4
      Related
      ENSP00000445835.1, ENST00000545495.5
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    2. NM_001039712.2 → NP_001034801.1  death effector domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_001034801.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL591806, BC013910, BG565440
      Consensus CDS
      CCDS1219.1
      UniProtKB/Swiss-Prot
      D3DVF5, O60737, O75618
      UniProtKB/TrEMBL
      B3KMS4
      Related
      ENSP00000414821.2, ENST00000458050.6
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    3. NM_001330765.2 → NP_001317694.1  death effector domain-containing protein isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL591806
      Consensus CDS
      CCDS81391.1
      UniProtKB/TrEMBL
      B1AQP5, B3KMS4
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    4. NM_032998.3 → NP_127491.1  death effector domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_127491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL591806, BC013910
      Consensus CDS
      CCDS1219.1
      UniProtKB/Swiss-Prot
      D3DVF5, O60737, O75618
      UniProtKB/TrEMBL
      B3KMS4
      Related
      ENSP00000356985.3, ENST00000368006.8
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161120974..161132667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245600.4 → XP_005245657.1  death effector domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_005245657.1

      UniProtKB/TrEMBL
      B1AQP5, B3KMS4
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    2. XM_005245599.4 → XP_005245656.1  death effector domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_005245656.1

      UniProtKB/TrEMBL
      B1AQP5, B3KMS4
      Related
      ENSP00000356984.1, ENST00000368005.5
      Conserved Domains (1) summary
      cd08790
      Location:22 → 118
      DED_DEDD; Death Effector Domain of DEDD

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160258449..160270142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339601.1 → XP_054195576.1  death effector domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B1AQP5

    2. XM_054339600.1 → XP_054195575.1  death effector domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B1AQP5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004216.2: Suppressed sequence

      Description
      NM_004216.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75618.1 GenPept UniProtKB/Swiss-Prot:O75618

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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